Document Detail

Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.
MedLine Citation:
PMID:  1061096     Owner:  NLM     Status:  MEDLINE    
A woman aged 54 was studied because of a severe acute porphyric (neurologic) relapse with clinical and chemical findings characteristic of porphyria variegata. During a family survey, her brother, aged 59, was found to have chemical abnormalities typical of porphyria cutanea tarda, without suggestion of neurologic manifestations. He had mild skin changes compatible with either of these forms of porphyria. The sister exhibited the protocoproporphyria of porphyria variegata, together with a large amount of fecal "x" porphyrin fraction, without demonstrable isocoproporphyrins. The brother had a uro-isocopro-type of porphyria in accord with the diagnosis of porphyria cutanea tarda, and quite at variance with the sister's findings. This occurrence of porphyria variegata and porphyria cutanea tarda in siblings is thus far unique. Certain hypotheses are considered in respect to genetic aspects of the differing prophyrias in this sibling pair.
C J Watson; R A Cardinal; I Bossenmaier; Z J Petryka
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  72     ISSN:  0027-8424     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  1975 Dec 
Date Detail:
Created Date:  1976-03-30     Completed Date:  1976-03-30     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  5126-9     Citation Subset:  IM    
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MeSH Terms
Acute Disease
Coproporphyrinogens / metabolism
Feces / analysis
Middle Aged
Porphyrias / genetics*,  metabolism
Uroporphyrins / metabolism
Reg. No./Substance:
0/Coproporphyrinogens; 0/Uroporphyrins

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